2021

Scientific Articles

unige:154133	A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family	Guipponi, Michel; Masclaux, Frédéric; Sloan Bena, Frédérique; Di Sanza, Corinne; ... Neerman Arbez, Marguerite
unige:154577	Benefits of exome sequencing in children with suspected isolated hearing loss	Van Heurck, Roxane; Carminho Amaro Rodrigues, Maria Teresa; Ranza, Emmanuelle Nathalie; Stafuzza, Caterina; ... Giacobino, Ariane
unige:159455	Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis	Marconi, Caroline Baya Catherine; Lemmens, Laure; Masclaux, Frédéric; Mattioli, Francesca; ... Fokstuen, Siv
unige:148701	Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients	Laurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S; ... Guipponi, Michel

2020

Scientific Articles

unige:151823	Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)	Carminho Amaro Rodrigues, Maria Teresa; Steel, Dora; Sousa, Sergio B; Brandt, Gregor; ... Bally, Julien
unige:137333	LARS2-Perrault syndrome: a new case report and literature review	Carminho Amaro Rodrigues, Maria Teresa; Klee, Philippe; Laurent, Sacha; Guipponi, Michel; ... Giacobino, Ariane
unige:154128	MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination	Molinard-Chenu, Aude; Fluss, Joël Victor; Laurent, Sacha; Laurent, Meryle; ... Dayer, Alexandre
unige:154959	SCN8A heterozygous variants are associated with anoxic-epileptic seizures	Ranza, Emmanuelle Nathalie; Z'Graggen, Werner; Lidgren, Mathias; Beghetti, Maurice; ... Korff, Christian

2019

Scientific Articles

unige:127542

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes

Stekelenburg, Caroline; Gerster, Karine; Blouin, Jean-Louis; Lang-Muritano, Mariarosaria; ... Schwitzgebel Luscher, Valérie

2018

Scientific Articles

unige:100052	Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay	Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; ... Antonarakis, Stylianos
unige:108120	Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder	Varvagiannis, Konstantinos; Hanquinet, Sylviane; Billieux, M; De Luca, R; ... Fokstuen, Siv
unige:123733	Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother	Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane

2017

Scientific Articles

unige:101816	New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation	Fabbri, C; Tansey, K E; Perlis, R H; Hauser, J; ... Lewis, C M
unige:97043	No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients	Guipponi, Michel; Santoni, Federico; Schneider, Maude; Gehrig, C; ... Antonarakis, Stylianos
unige:98401	SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy	Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stéphanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian

2016

Scientific Articles

unige:88995	Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree	Makrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Zaki, Maha; ... Antonarakis, Stylianos
unige:88998	Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders	Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos
unige:84469	Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma	Bonilla Bustillo, Ximena; Parmentier, Laurent; King, Bryan; Bezrukov, Fedor; ... Nikolaev, Sergey Igorievich
unige:88999	Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia	Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko

2015

Scientific Articles

unige:77371	A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)	Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; ... Brusco, Alfredo
unige:77355	Biased allelic expression in human primary fibroblast single cells	Borel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos
unige:77402	DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins	Sailani, Mohammad Reza; Santoni, Federico; Letourneau, Audrey; Borel, Christelle; ... Antonarakis, Stylianos
unige:77405	Familial epilepsy in Algeria: Clinical features and inheritance profiles	Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; ... Antonarakis, Stylianos
unige:77363	Galanin pathogenic mutations in temporal lobe epilepsy	Guipponi, Michel; Chentouf, Amina; Webling, Kristin E B; Freimann, Krista; ... Antonarakis, Stylianos
unige:77394	HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells	Letourneau, Audrey; Cobellis, Gilda; Fort, Alexandre; Santoni, Federico; ... Antonarakis, Stylianos
unige:76397	Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21	Bosman, Alexis; Letourneau, Audrey; Sartiani, Laura; Del Lungo, Martina; ... Jaconi, Marisa
unige:77359	Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing	Gutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil

2014

Scientific Articles

unige:77374	Copy number variants and therapeutic response to antidepressant medication in major depressive disorder	Tansey, K E; Rucker, J J H; Kavanagh, D H; Guipponi, Michel; ... Uher, R
unige:42302	Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families	Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan
unige:42268	Domains of genome-wide gene expression dysregulation in Down's syndrome	Letourneau, Audrey; Santoni, Federico; Bonilla Bustillo, Ximena; Sailani, Mohammad Reza; ... Antonarakis, Stylianos
unige:42298	Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes	Guipponi, Michel; Santoni, Federico; Setola, Vincent; Gehrig, Corinne; ... Antonarakis, Stylianos
unige:42299	Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia	Gannagé-Yared, Marie-Hélène; Makrythanasis, Periklis; Chouery, Eliane; Sobacchi, Cristina; ... Mégarbané, André
unige:44227	Extrachromosomal driver mutations in glioblastoma and low-grade glioma	Nikolaev, Sergey Igorievich; Santoni, Federico; Garieri, Marco; Makrythanasis, Periklis; ... Antonarakis, Stylianos
unige:42301	Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations	Nikolaev, Sergey Igorievich; Garieri, Marco; Santoni, Federico; Falconnet, Emilie; ... Antonarakis, Stylianos
unige:36344	Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling	Callier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; ... Nef, Serge
unige:34274	Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21	Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Sailani, Mohammad Reza; ... Feki, Anis
unige:42303	Next generation diagnostics on cardiomyopathy	Blouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; ... Fokstuen, Siv
unige:34230	Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster	Santoni, Federico; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Guipponi, Michel; ... Antonarakis, Stylianos

2013

Scientific Articles

unige:162715	A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family	Belhedi, Nejla; Sloan Bena, Frédérique; Mrabet, Amel; Guipponi, Michel; ... Salzmann, Annick
unige:34630	Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature	Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline
unige:33908	Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia	Moore, Daniel J.; Onoufriadis, Alexandros; Shoemark, Amelia; Simpson, Michael A.; ... Mitchison, Hannah M.
unige:34514	Passive and active DNA methylation and the interplay with genetic variation in gene regulation	Gutierrez Arcelus, Maria; Lappalainen, Tuuli Emilia; Montgomery, Stephen; Buil Demur, Alfonso Alberto; ... Dermitzakis, Emmanouil

Professional Articles

unige:34632

TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm

De Iaco, Alberto; Santoni, Federico; Vannier, Anne; Guipponi, Michel; ... Luban, Jeremy

2012

Scientific Articles

unige:161989	Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy	Salzmann, Annick; Guipponi, Michel; Lyons, Peter J; Fricker, Lloyd D; ... Malafosse, Alain
unige:32274	Genetic predictors of response to serotonergic and noradrenergic antidepressants in major depressive disorder: a genome-wide analysis of individual-level data and a meta-analysis	Tansey, Katherine E; Guipponi, Michel; Perroud, Nader Ali; Bondolfi, Guido; ... Uher, Rudolf

Professional Articles

unige:34641	A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas	Nikolaev, Sergey Igorievich; Sotiriou, Sotirios K; Pateras, Ioannis S; Santoni, Federico; ... Halazonetis, Thanos
unige:34654	Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma	Nikolaev, Sergey Igorievich; Rimoldi, Donata; Iseli, Christian; Valsesia, Armand; ... Antonarakis, Stylianos

2011

Scientific Articles

unige:34664	Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences	Robyr, Daniel; Friedli, Marc; Gehrig, Corinne; Arcangeli, Mélanie; ... Antonarakis, Stylianos
unige:34663	Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing	Fasquelle, Lydie; Scott, Hamish S; Lenoir, Marc; Wang, Jing; ... Delprat, Benjamin

Privat-docent Thesis

unige:15847

Role of Type II Transmembrane Serine Proteases in Hearing Loss

Guipponi, Michel;